ZNF717[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 57772	GRCh38/hg38 3p14.1-12.3(chr3:64761248-78410098)x1	ADAMTS9-AS2, ARL6IP5 +234 more	Copy number loss	See cases	GPathogenic
Select item 151504	GRCh38/hg38 3p14.1-12.3(chr3:68328980-76764319)x3	ARL6IP5, CNTN3 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 153529	GRCh38/hg38 3p13-11.1(chr3:73824871-90453699)x1	C3orf38, CADM2 +124 more	Copy number loss	See cases	GPathogenic
Select item 155598	GRCh38/hg38 3p12.3-11.1(chr3:74649382-89495681)x1	C3orf38, CADM2 +118 more	Copy number loss	See cases	GPathogenic
Select item 154281	GRCh38/hg38 3p12.3(chr3:75153221-76021659)x3	FRG2C, LINC00960 +17 more	Copy number gain	See cases	GLikely benign
Select item 149648	GRCh38/hg38 3p12.3(chr3:75422685-75744282)x1	LOC129937069, FRG2C +11 more	Copy number loss	See cases	GLikely benign
Select item 147855	GRCh38/hg38 3p12.3(chr3:75522003-75744122)x1	FRG2C, LINC00960 +5 more	Copy number loss	See cases	GBenign
Select item 152484	GRCh38/hg38 3p12.3(chr3:75654754-75742414)x3	FRG2C, LINC00960 +3 more	Copy number gain	See cases	GBenign
Select item 152464	GRCh38/hg38 3p12.3(chr3:75654754-75814049)x3	FRG2C, LINC00960 +5 more	Copy number gain	See cases	GBenign
Select item 152485	GRCh38/hg38 3p12.3(chr3:75669377-75742414)x3	LINC00960, LOC123002306 +2 more	Copy number gain	See cases	GBenign
Select item 145880	GRCh38/hg38 3p12.3(chr3:75721211-75742414)x3	MIR4273, ZNF717	Copy number gain	See cases	GLikely benign
Select item 2672945	NM_001290208.3(ZNF717):c.2739C>T (p.Phe913=)	ZNF717	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2653974	NM_001290208.3(ZNF717):c.2103C>T (p.Ser701=)	ZNF717	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2681676	NM_001290208.3(ZNF717):c.1252A>T (p.Thr418Ser)	ZNF717 (T368S +1 more)	Single nucleotide variant (missense variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 161523	NM_001290208.3(ZNF717):c.1228C>G (p.Leu410Val)	ZNF717 (L410V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2653975	NM_001290208.3(ZNF717):c.618G>A (p.Leu206=)	ZNF717	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 770535	NM_001290208.3(ZNF717):c.277+7C>T	ZNF717	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 769608	NM_001290208.3(ZNF717):c.191A>G (p.Tyr64Cys)	ZNF717 (Y14C +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2003596	NM_001290208.3(ZNF717):c.188A>T (p.His63Leu)	ZNF717 (H63L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676304	GRCh37/hg19 3p13-q12.1(chr3:72488757-99614758)x3	ARL13B, ARL6 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 1341111	GRCh37/hg19 3p12.3(chr3:74969156-77959159)x1	FRG2C, ROBO2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 814457	GRCh37/hg19 3p12.3(chr3:75404228-76636256)x1	FRG2C, ROBO2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 814456	GRCh37/hg19 3p12.3(chr3:75200750-76084525)x3	ROBO2, ZNF717 +1 more	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 441945	GRCh37/hg19 3p13-12.3(chr3:70433832-77012164)x1	RYBP, SHQ1 +13 more	Copy number loss	See cases	GPathogenic
Select item 221336	Single allele	ZNF717	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 3024131	NC_000003.12:g.75741671A>G	ZNF717	Single nucleotide variant	Susceptibility to severe coronavirus disease (COVID-19)	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 29